title: Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms.
abstract: BACKGROUND
  Chronic idiopathic acrocyanosis is a common acrosyndrome. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in the metabolism of folate. Two functional polymorphisms of MTHFR have been identified, C677T and A1298C.
  
  
  OBJECTIVE
  To compare the prevalence of these two MTHFR polymorphisms in patients with chronic idiopathic acrocyanosis to a control group.
  
  
  METHODS
  The study was conducted on 43 consecutive patients with acrocyanosis and on 100 controls.
  
  
  RESULTS
  The risk of acrocyanosis was significantly higher in patients homozygous for the mutation c.677C>T compared to those with no mutation (OR = 4.8 (95%CI 1.5-14.9)). The homozygosity TT was associated with an increased homocysteine level.
  
  
  CONCLUSIONS
  On the basis of our findings, acrocyanosis could be considered as a cutaneous sign of a "latent" cardiovascular risk. This should be taken into account particularly when acrocyanosis is associated either to other medical conditions that determine vessel wall damage or to conditions that predispose to the risk of thromboembolism.
authors.affiliation: Health Services Research Unit.
authors.forename: Francesca
authors.initials: F
authors.lastname: Sampogna
authors.affiliation: 1st Dermatological Unit.
authors.forename: Diana Bella
authors.initials: DB
authors.lastname: Camaioni
authors.affiliation: 2nd Dermatological Unit.
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Giampetruzzi
authors.affiliation: 5th Dermatological Unit.
authors.forename: Rosamaria
authors.initials: R
authors.lastname: Corona
authors.affiliation: Clinical Analysis Laboratory, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, Via dei Monti di Creta 104, 00167Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Ruzzi
authors.affiliation: Clinical Analysis Laboratory, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, Via dei Monti di Creta 104, 00167Rome, Italy.
authors.forename: Lorena
authors.initials: L
authors.lastname: Silvestri
authors.affiliation: 1st Dermatological Unit.
authors.forename: Biagio
authors.initials: B
authors.lastname: Didona
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002908:Chronic Disease; D003490:Cyanosis / Q000235:genetics*; D005260:Female; D005533:Foot Dermatoses / Q000235:genetics*; D006229:Hand Dermatoses / Q000235:genetics*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: MTHFR; acrocyanosis; homocysteine; polymorphism